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- Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens.Eur J Hum Genet. 2012; 20: 27-32
- Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review.Orphanet J Rare Dis. 2017; 12
- Natural history of denervation in SMA: relation to age, SMN2 copy number, and function.Ann Neurol. 2005; https://doi.org/10.1002/ana.20473
- Correlation between SMA type and SMN2 copy number revisited: an analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases.Neuromuscul Disord. 2018; https://doi.org/10.1016/j.nmd.2018.01.003
- Observational study of spinal muscular atrophy type I and implications for clinical trials.Neurology. 2014; 83: 810-817
- Natural history of infantile-onset spinal muscular atrophy.Ann Neurol. 2017; 82: 883-891
- Current treatment options in neurology—SMA therapeutics.Curr Treat Options Neurol. 2019; 21https://doi.org/10.1007/s11940-019-0568-z
- FDA approves innovative gene therapy to treat pediatric patients with spinal muscular atrophy, a rare disease and leading genetic cause of infant mortality _ FDA.(Available at:) (Accessed October 14, 2019)
- Nusinersen versus sham control in infantile-onset spinal muscular atrophy.N Engl J Med. 2017; 377: 1723-1732
- Nusinersen versus sham control in later-onset spinal muscular atrophy.N Engl J Med. 2018; 378: 625-635
- Nusinersen in later-onset spinal muscular atrophy: long-term results from the phase 1/2 studies.Neurology. 2019; 92: e2492-e2506
- Single-dose gene-replacement therapy for spinal muscular atrophy.N Engl J Med. 2017; 377: 1713-1722
- From clinical trials to clinical practice: practical considerations for gene replacement therapy in SMA type 1.Pediatr Neurol. 2019; https://doi.org/10.1016/j.pediatrneurol.2019.06.007
- Nusinersen in infants who initiate treatment in a presymptomatic stage of spinal muscular atrophy (SMA): interim efficacy and safety results from the phase 2 NURTURE study (S25.001).Neurology. 2019; 92 (Available at:): S25-S2001
- Spinal muscular atrophies.in: Darras B.T. Jones H.R. Ryan M.M. Neuromuscular disorders of infancy, childhood, and adolescence. 2nd edition. Elsevier/Academic Press, London2015: 117-145 (Available at:) (Accessed December 23, 2019)
- Identification and characterization of a spinal muscular atrophy-determining gene.Cell. 1995; 80: 155-165
- Structure and organization of the human survival motor neurone (SMN) gene.Genomics. 1996; 32: 479-482
- The clinical landscape for SMA in a new therapeutic era.Gene Ther. 2017; 24: 529-533
- Technical standards and guidelines for spinal muscular atrophy testing.Genet Med. 2011; https://doi.org/10.1097/GIM.0b013e318220d523
- An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).Hum Mutat. 2000; 15: 228-237
- Spinal muscular atrophy: molecular genetics and diagnostics.Expert Rev Mol Diagn. 2004; 4: 15-29
- Multiplex ligation-dependent probe amplification (MLPA ®) for the detection of copy number variation in genomic sequences.Methods Mol Biol. 2011; 688: 97-126
- Clinical utility gene card for: proximal spinal muscular atrophy.Eur J Hum Genet. 2012; 20: 713
- Gene dosage analysis of proximal spinal muscular atrophy carriers using real-time PCR.Arch Iran Med. 2011; 14: 188-191
- Molecular analysis of spinal muscular atrophy: a genotyping protocol based on TaqMan® real-time PCR.Genet Mol Biol. 2012; 35: 955-959
- PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy.Lancet. 1995; 345 (Available at:) (Accessed December 16, 2019): 985-986
- The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing.Genet Med. 2017; https://doi.org/10.1038/gim.2016.215
- [Sanger sequencing for the diagnosis of spinal muscular atrophy patients with survival motor neuron gene 1 compound heterozygous mutation].Zhonghua Yi Xue Za Zhi. 2017; 97: 418-423
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of medical genetics and Genomics and the Association for Molecular pathology.Genet Med. 2015; 17: 405-424
Health Bureau of the Health C. Newborn Screening for Spinal Muscular Atrophy A Summary of the Evidence and Advisory Committee Decision.; 2018. Available at: https://www.hrsa.gov/sites/default/files/hrsa/advisory-committees/heritable-disorders/rusp/previous-nominations/sma-consumer-summary.pdf
- Newborn screening for spinal muscular atrophy - Cure SMA.(Available at:) (Accessed November 8, 2019)
- Evidence-based review of newborn screening for spinal muscular atrophy (SMA): final report (v5.2).(Available at:) (Accessed November 10, 2019)
- Pilot study of population-based newborn screening for spinal muscular atrophy in New York state.Genet Med. 2017; 20https://doi.org/10.1038/gim.2017.152
- Presymptomatic diagnosis of spinal muscular atrophy through newborn screening.J Pediatr. 2017; 190https://doi.org/10.1016/j.jpeds.2017.06.042
- Multiplex droplet digital PCR method applicable to newborn screening, carrier status, and assessment of spinal muscular atrophy.Clin Chem. 2018; 64: 1753-1761
- Newborn blood spot screening test using multiplexed real-time PCR to simultaneously screen for spinal muscular atrophy and severe combined immunodeficiency.Clin Chem. 2015; 61: 412-419
- Committee opinion: carrier screening for genetic Conditions. Vol 691.(Available at:) (Accessed November 10, 2019)
- Differences in SMN1 allele frequencies among ethnic groups within North America.J Med Genet. 2009; 46: 641-644
- Carrier screening for spinal muscular atrophy.Genet Med. 2008; 10: 840-842
- Introductory chapter: new theory and technology in early clinical embryogenesis.in: Bin Wu Feng Huai L. Embryology - theory and practice. IntechOpen, London, UK2019https://doi.org/10.5772/intechopen.88331
- Utility of two SMN1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling.Eur J Hum Genet. 2018; 26: 1554-1557
- An Ashkenazi Jewish SMN1 haplotype specific to duplication alleles improves pan-ethnic carrier screening for spinal muscular atrophy.Genet Med. 2014; 16: 149-156
- ISUOG practice guidelines: invasive procedures for prenatal diagnosis.Ultrasound Obstet Gynecol. 2016; 48: 256-268
- ESHRE PGD Consortium data collection XIV-XV: cycles from January 2011 to December 2012 with pregnancy follow-up to October 2013.Hum Reprod. 2017; 32: 1974-1994
- Preimplantation genetic testing: its evolution, where are we today?.J Hum Reprod Sci. 2018; 11: 306-314
- Preimplantation genetic screening and preimplantation genetic diagnosis.Obstet Gynecol Clin North Am. 2018; 45: 113-125
- Preimplantation genetic diagnosis for monogenic diseases.Best Pract Res Clin Obstet Gynaecol. 2017; 44: 68-75
- Preimplantation genetic diagnosis (PGD) for monogenic disorders: the value of concurrent aneuploidy screening.J Genet Couns. 2016; 25: 1327-1337
- Treatment algorithm for infants diagnosed with spinal muscular atrophy through newborn screening.J Neuromuscul Dis. 2018; 5: 145-158